chr17:40498461:G>A Detail (hg19) (STAT3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:40,498,461-40,498,461 |
| hg38 | chr17:42,346,443-42,346,443 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_213662.1:c.273+126C>T | |
| NM_003150.3:c.273+126C>T | ||
| NM_139276.2:c.273+126C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.017 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | thyroiditis | We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs... | BeFree | 24081513 | Detail |
| <0.001 | Graves Disease | We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs... | BeFree | 24081513 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, ... | DisGeNET | Detail |
| We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2291281 dbSNP
- Genome
- hg19
- Position
- chr17:40,498,461-40,498,461
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs2291281
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0172
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 288
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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